Abstract

To evaluate the optic nerve head (ONH) microcirculation in autosomal dominant optic atrophy (ADOA) patients. This study comprised 22 eyes of 12 ADOA patients, diagnosed according to clinical findings including family history and the presence of mutations in the OPA1 gene. Twenty-four normal eyes of 24 age-matched subjects, with either the right or left eye randomly selected for use, served as controls. Circumpapillary retinal nerve fibre layer thickness (cpRNFLT) and mean blur rate (MBR) in the ONH were determined with optical coherence tomography (OCT) and laser speckle flowgraphy (LSFG), respectively. For each ONH quadrant (superior, temporal, inferior and nasal), the MBR and cpRNFLT ratio was also calculated by dividing tissue MBR in that quadrant by tissue MBR in the entire ONH and by dividing cpRNFLT in that quadrant by cpRNFLT in the entire ONH respectively. Mean blur rate (MBR) in all quadrants was significantly lower in the ADOA patients than in the controls (p<0.001 in each). The MBR ratio was significantly lower in the ADOA patients only in the temporal quadrant (p<0.001). Similarly, cpRNFLT was lower in the ADOA patients in all quadrants (p<0.001 in each), and the cpRNFLT ratio was lower in the temporal quadrant (p<0.001). Reduced blood flow in the temporal optic disc in ADOA patients is associated with reduced temporal cpRNFLT, suggesting that both are caused by damage to the papillomacular bundle. The anatomical characteristics of the papillomacular bundle may make it especially susceptible to mitochondrial dysfunction-induced damage, which occurs in ADOA.

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